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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serra… See abstract for full author list ➔ Chia R, et al. Among authors: gasser t. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
Complex relationship between Parkin mutations and Parkinson disease.
West A, Periquet M, Lincoln S, Lücking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Dürr A, Hardy J, Brice A, Farrer M; French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson's Disease. West A, et al. Among authors: gasser t. Am J Med Genet. 2002 Jul 8;114(5):584-91. doi: 10.1002/ajmg.10525. Am J Med Genet. 2002. PMID: 12116199
The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.
Zimprich A, Müller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, Ott E, Wenzel K, Asmus F, Hardy J, Wszolek Z, Gasser T. Zimprich A, et al. Among authors: gasser t. Am J Hum Genet. 2004 Jan;74(1):11-9. doi: 10.1086/380647. Epub 2003 Dec 19. Am J Hum Genet. 2004. PMID: 14691730 Free PMC article.
UCHL1 is a Parkinson's disease susceptibility gene.
Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, Krüger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JP, de Andrade M, Rocca WA; UCHL1 Global Genetics Consortium. Maraganore DM, et al. Among authors: gasser t. Ann Neurol. 2004 Apr;55(4):512-21. doi: 10.1002/ana.20017. Ann Neurol. 2004. PMID: 15048890
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Zimprich A, et al. Among authors: gasser t. Neuron. 2004 Nov 18;44(4):601-7. doi: 10.1016/j.neuron.2004.11.005. Neuron. 2004. PMID: 15541309 Free article.
A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.
Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L. Buervenich S, et al. Among authors: gasser t. Arch Neurol. 2005 Jan;62(1):74-8. doi: 10.1001/archneur.62.1.74. Arch Neurol. 2005. PMID: 15642852
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O. Berg D, et al. Among authors: gasser t. Mov Disord. 2005 Sep;20(9):1191-4. doi: 10.1002/mds.20504. Mov Disord. 2005. PMID: 15895422
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A. Martinez M, et al. Among authors: gasser t. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):72-4. doi: 10.1002/ajmg.b.30196. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15924299
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Müller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Krüger R. Strauss KM, et al. Among authors: gasser t. Hum Mol Genet. 2005 Aug 1;14(15):2099-111. doi: 10.1093/hmg/ddi215. Epub 2005 Jun 16. Hum Mol Genet. 2005. PMID: 15961413
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.
Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V; Italian Parkinson's Genetics Network. Di Fonzo A, et al. Among authors: gasser t. Eur J Hum Genet. 2006 Mar;14(3):322-31. doi: 10.1038/sj.ejhg.5201539. Eur J Hum Genet. 2006. PMID: 16333314
1,065 results